Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy

BACKGROUND: Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associated variants have been described, and the majority of these lead to dominant...

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Détails bibliographiques
Auteurs principaux: McLaughlin, Heather M, Kelly, Melissa A, Hawley, Pamela P, Darras, Basil T, Funke, Birgit, Picker, Jonathan
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2013
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3711885/
https://ncbi.nlm.nih.gov/pubmed/23815709
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-14-68
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